Varaico: Literature-Extracted Genetic Variants

Gene:FBXL6
Variant:p.P190fs

FBXL6

36 papers

RefSeq Summary

This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subun...

Pfam Domains

F-box-likeaa 113–163UCSCF-box-like
LRR_6aa 382–405UCSCLeucine Rich repeat
LRR_6aa 382–405UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 6

HGNC Alias Symbol

FBL6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012162.4
p.P190fs
c.568_569fs
Surrounding Variants
1 paper
NM_012162.4
p.V211L
c.631G>C
1 paper
NM_012162.4
p.P133_M134insFs
c.399_400insC
1 paper
NM_012162.4
p.E118V
c.353A>T
1 paper
NM_012162.4
p.G112fs
c.334_335fs
1 paper
NM_012162.4
p.T102P
c.304A>C
1 paper
NM_012162.4
p.T100A
c.298A>G
1 paper
NM_012162.4
p.P220L
c.659C>T
1 paper
NM_012162.4
p.R221L
c.662G>T
1 paper
NM_012162.4
p.A91T
c.271G>A
1 paper
NM_012162.4
p.A89T
c.265G>A
1 paper
NM_012162.4
p.E88*
c.262G>T
1 paper
NM_012162.4
p.E88K
c.262G>A
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